ReviewClinical and experimental immunology2011
Do ribosomopathies explain some cases of common variable immunodeficiency?
Review in Clinical and experimental immunology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Immune status of patients with inherited bone marrow failure syndromes.American journal of hematology · 2015Trial
- Beyond neutropenia: Immunological evaluation of patients with Shwachman-Diamond syndrome.British journal of haematology · 2026Article
- An arrayed CRISPR screen of primary B cells reveals the essential elements of the antibody secretion pathway.Frontiers in immunology · 2023Article
- Article
- Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.Frontiers in oncology · 2022Review
- Do ribosomal protein alterations affect ER stress response in CVID?Clinical and experimental immunology · 2020Article
- De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.American journal of human genetics · 2018Article
- Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia.Scientific reports · 2018Article
- Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.International journal of hematology · 2016Article
- Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.American journal of hematology · 2014Article
- Mutation of a Nopp140 gene dao-5 alters rDNA transcription and increases germ cell apoptosis in C. elegans.Cell death & disease · 2014Article
- Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes.Vaccine · 2014Article
- Ribosomopathies: mechanisms of disease.Clinical medicine insights. Blood disorders · 2014Review
- Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.British journal of haematology · 2013Article
- Common variable immunodeficiency as the initial presentation of dyskeratosis congenita.The Journal of allergy and clinical immunology · 2013Article
- Eri1 regulates microRNA homeostasis and mouse lymphocyte development and antiviral function.Blood · 2012Article
- Alterations in the ribosomal machinery in cancer and hematologic disorders.Journal of hematology & oncology · 2012Review
- Immunodeficiency and autoimmunity: lessons from systemic lupus erythematosus.Trends in molecular medicine · 2012Review
- The nucleolus of Caenorhabditis elegans.Journal of biomedicine & biotechnology · 2012Review
- Impaired immune function in children with Fanconi anaemia.British journal of haematology · 2011Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The considerable clinical heterogeneity of patients with common variable immunodeficiency disorders (CVID) shares some similarity with bone-marrow failure disorders such as Diamond-Blackfan anaemia (DBA) and Shwachman-Diamond syndrome (SDS), now recognized as defects in ribosome biogenesis or ribosomopathies. The recognition of a patient with DBA who subsequently developed CVID lends support to our previous finding of a heterozygous mutation in the SBDS gene of SBDS in another CVID patient, suggesting that ribosome biogenesis defects are responsible for a subset of CVID. Genetic defects in the ribosomal translational machinery responsible for various bone marrow failure syndromes are recognized readily when they manifest in children, but diagnosing these in adults presenting with complex phenotypes and hypogammaglobulinaemia can be a challenge. In this perspective paper, we discuss our clinical experience in CVID patients with ribosomopathies, and review the immunological abnormalities in other conditions associated with ribosomal dysfunction. With genetic testing available for various bone marrow failure syndromes, our hypothesis that ribosomal abnormalities may be present in patients with CVID could be proved in future studies by testing for mutations in specific ribosomal genes. New knowledge might then be translated into novel therapeutic strategies for patients in this group of immunodeficiency disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.